Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.L409S

MBTPS2

186 papers

RefSeq Summary

This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ...

Pfam Domains

Peptidase_M50aa 159–501UCSCPeptidase family M50

Gene Aliases

HGNC Name

membrane bound transcription factor peptidase, site 2

HGNC Previous Symbol

KFSD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015884.4
p.L409S
c.1226T>C
Surrounding Variants
1 paper
NM_015884.4
p.D407H
c.1219G>C
2 papers
NM_015884.4
p.H413Y
c.1237C>T
1 paper
NM_015884.4
p.K401R
c.1202A>G
1 paper
NM_015884.4
p.S384I
c.1151G>T
1 paper
NM_015884.4
p.S382_S384del3
c.1144_1151del9
1 paper
NM_015884.4
p.D376E
c.1128C>A
1 paper
NM_015884.4
p.D376E
c.1128C>G
1 paper
NM_015884.4
p.V370I
c.1108G>A
1 paper
NM_015884.4
p.R354C
c.1060C>T
1 paper
NM_015884.4
p.F351fs
c.1051_1052fs
1 paper
NM_015884.4
p.C335F
c.1004G>T
6 papers
NM_015884.4
p.C334Y
c.1001G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."